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Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype

Journal of medical genetics, 2004-03, Vol.41 (3), p.230-232

2004

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Isolation of a novel potassium channel gene hSKCa3 containing a polymorphic CAG repeat : a candidate for schizophrenia and bipolar disorder?

Molecular psychiatry, 1998, Vol.3 (1), p.32-37

1998

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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Journal of medical genetics, 2011-06, Vol.48 (6), p.396-406

2011

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Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

Clinical genetics, 2008-11, Vol.74 (5), p.425-433

2008

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DNA analysis of Huntington's disease: five years of experience in Germany, Austria, and Switzerland

Neurology, 1999-09, Vol.53 (4), p.801

1999

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Location and type of mutation in the LIS1 gene do not predict phenotypic severity

Neurology, 2007-07, Vol.69 (5), p.442

2007

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Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum

Molecular syndromology, 2010-09, Vol.1 (3), p.99-112

2010

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Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

Clinical genetics, 2008-11, Vol.74 (5), p.425-433

2008

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Dilatative uropathy as a manifestation of neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin-II gene

Klinische Padiatrie, 2013-12, Vol.225 (7), p.407

2013

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Association between hSKCa3 and schizophrenia not confirmed by transmission disequilibrium test in 193 offspring/parents trios

Molecular psychiatry, 1999-05, Vol.4 (3), p.267-270

1999

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RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION

Genetic counseling, 2015-01, Vol.26 (4), p.415

2015

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Mutation screening of the KCNN3 gene reveals a rare frameshift mutation

Molecular psychiatry, 2001-05, Vol.6 (3), p.259-260

2001

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The human small conductance calcium-regulated potassium channel gene (hSKCa3) contains two CAG repeats in exon 1, is on chromosome 1q21.3, and shows a possible association with schizophrenia

Neurogenetics, 1998-08, Vol.1 (4), p.259-265

1998

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Microdeletion 5q14.3 and anomalies of brain development

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2124-2133

2013

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Stable methylation patterns in interspecific antelope hybrids and the characterization and localization of a satellite fraction in the Alcelaphini and Hippotragini

Chromosome research, 2000-10, Vol.8 (7), p.635-643

2000

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Refining the phenotype of [alpha]-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

Clinical genetics, 2008-11, Vol.74 (5), p.425-433

2008

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No association between the tyrosine hydroxylase microsatellite marker HUMTH01 and schizophrenia or bipolar I disorder

Psychiatric genetics, 1998, Vol.8 (2), p.45-48

1998

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hSKCa3: a candidate gene for schizophrenia?

Psychiatric genetics, 1999-06, Vol.9 (2), p.91-96

1999

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Analysis of the CAG repeats in the SCA1 and B37 genes in schizophrenic and bipolar I disorder patients: Tentative association between B37 and schizophrenia

American journal of medical genetics, 1997-05, Vol.74 (3), p.324-330

1997

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An Apamin- and Scyllatoxin-Insensitive Isoform of the Human SK3 Channel

Molecular pharmacology, 2004-03, Vol.65 (3), p.788-801

2004

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A dimensional impulsive-aggressive phenotype is associated with the A218C polymorphism of the tryptophan hydroxylase gene: A pilot study in well-characterized impulsive inpatients

American journal of medical genetics, 2002-07, Vol.114 (5), p.553-557

2002

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Derivation and Characterization of a Somatic Cell Hybrid Containing the Portion of Mouse Chromosome 11 (MMU11) Homologous to Human Chromosome 17q

The Journal of heredity, 1996-05, Vol.87 (3), p.252-258

1996

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Trinucleotide repeat expansions in the junctophilin-3 gene are not found in caucasian patients with a huntington's disease-like phenotype

Annals of neurology, 2002-05, Vol.51 (5), p.662-662

2002

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The Human Genome: Detecting Chromosomal Deletions: Angelman and Prader-Willi Syndromes

The American journal of psychiatry, 2002-03, Vol.159 (3), p.372-372

2002

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Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype

Isolation of a novel potassium channel gene hSKCa3 containing a polymorphic CAG repeat : a candidate for schizophrenia and bipolar disorder?

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

DNA analysis of Huntington's disease: five years of experience in Germany, Austria, and Switzerland

Location and type of mutation in the LIS1 gene do not predict phenotypic severity

Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum

Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

Dilatative uropathy as a manifestation of neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin-II gene

Association between hSKCa3 and schizophrenia not confirmed by transmission disequilibrium test in 193 offspring/parents trios

RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION

Mutation screening of the KCNN3 gene reveals a rare frameshift mutation

The human small conductance calcium-regulated potassium channel gene (hSKCa3) contains two CAG repeats in exon 1, is on chromosome 1q21.3, and shows a possible association with schizophrenia

Microdeletion 5q14.3 and anomalies of brain development

Stable methylation patterns in interspecific antelope hybrids and the characterization and localization of a satellite fraction in the Alcelaphini and Hippotragini

Refining the phenotype of [alpha]-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

No association between the tyrosine hydroxylase microsatellite marker HUMTH01 and schizophrenia or bipolar I disorder

hSKCa3: a candidate gene for schizophrenia?

Analysis of the CAG repeats in the SCA1 and B37 genes in schizophrenic and bipolar I disorder patients: Tentative association between B37 and schizophrenia

An Apamin- and Scyllatoxin-Insensitive Isoform of the Human SK3 Channel

A dimensional impulsive-aggressive phenotype is associated with the A218C polymorphism of the tryptophan hydroxylase gene: A pilot study in well-characterized impulsive inpatients

Derivation and Characterization of a Somatic Cell Hybrid Containing the Portion of Mouse Chromosome 11 (MMU11) Homologous to Human Chromosome 17q

Trinucleotide repeat expansions in the junctophilin-3 gene are not found in caucasian patients with a huntington's disease-like phenotype

The Human Genome: Detecting Chromosomal Deletions: Angelman and Prader-Willi Syndromes

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